(Q34102599)

31 July 2017

title

Tremor-ataxia with central hypomyelination (TACH) leukodystrophy maps to chromosome 10q22.3-10q23.31. (English)

1 reference

31 July 2017

14

Bernard Brais

0 references

Jean-Pierre Bouchard

10

object named as

Jean-Pierre Bouchard

0 references

Adeline Vanderver

object named as

Adeline Vanderver

12

0 references

Serge B. Melançon

7

object named as

Serge Melançon

1 reference

31 July 2017

1

Geneviève Bernard

1 reference

31 July 2017

11

Michel Vanasse

1 reference

31 July 2017

Isabelle Thiffault

2

1 reference

31 July 2017

Martine Tetreault

3

1 reference

31 July 2017

Maria Lisa Putorti

4

1 reference

31 July 2017

Isabelle Bouchard

5

1 reference

31 July 2017

Michel Sylvain

6

1 reference

31 July 2017

Rachel Laframboise

8

1 reference

31 July 2017

Pierre Langevin

9

1 reference

31 July 2017

Guillaume Sébire

13

1 reference

31 July 2017

language of work or name

English

0 references

publication date

17 July 2010

1 reference

31 July 2017

1 reference

31 July 2017

volume

11

1 reference

31 July 2017

issue

4

1 reference

31 July 2017

page(s)

457-464

1 reference

https://scigraph.springernature.com/pub.10.1007/s10048-010-0251-8

31 July 2017

exact match

0 references

cites work

Invited article: an MRI-based approach to the diagnosis of white matter disorders

1 reference

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Aicardi-Goutieres syndrome.

5 July 2018

1 reference

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Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147760

Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147760

Vanishing white matter disease

5 July 2018

1 reference

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Population history and its impact on medical genetics in Quebec

5 July 2018

1 reference

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Leukoencephalopathy with ataxia, hypodontia, and hypomyelination.

5 July 2018

1 reference

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Mega2: data-handling for facilitating genetic linkage and association analyses

5 July 2018

1 reference

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Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy

5 July 2018

1 reference

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5 July 2018

1 reference

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Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147760

The latest on leukodystrophies

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147760

Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147760

Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147760

Analysis of a splice-site mutation in the sap-precursor gene of a patient with metachromatic leukodystrophy

5 July 2018

1 reference

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Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters

5 July 2018

1 reference

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Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease

5 July 2018

1 reference

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Regional mapping of the human galactocerebrosidase gene (GALC) to 14q31 by in situ hybridization

5 July 2018

2 references

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5 July 2018

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Sphingolipid activator protein deficiency in a 16-week-old atypical Gaucher disease patient and his fetal sibling: biochemical signs of combined sphingolipidoses

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147760

Characterization of a mutation in a family with saposin B deficiency: a glycosylation site defect

5 July 2018

1 reference

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Simultaneous deficiency of sphingolipid activator proteins 1 and 2 is caused by a mutation in the initiation codon of their common gene

5 July 2018

1 reference

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Hypomyelination, hypogonadotropic hypogonadism, hypodontia - First Polish patient.

5 July 2018

1 reference

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Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster

28 October 2018

1 reference

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Clinical and genetic study of autosomal recessive cerebellar ataxia type 1.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147760

A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: first report of saposin A deficiency in humans

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147760

Multipoint estimation of identity-by-descent probabilities at arbitrary positions among marker loci on general pedigrees

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147760

Ataxia, Delayed Dentition and Hypomyelination: A Novel Leukoencephalopathy

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4147760

[Central hypomyelination, hypogonadotrophic hypogonadism and hypodontia: a new leukodystrophy]

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20640464

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Activator protein deficient Gaucher's disease. A second patient with the newly identified lipid storage disorder

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20640464

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Molecular genetics of metachromatic leukodystrophy

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20640464

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S10048-010-0251-8

1 reference

31 July 2017

1 reference

31 July 2017

1 reference